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Summary
HYPERPROLINEMIA, TYPE II
HP II
239510
OMIM = Online Medalian Inheritance of Men
79101
1p36.13
  • no treatment indicated/recommended
rare
autosomal recessive
mutation in the pyrroline-5-carboxylate dehydrogenase gene
2 types:
- type I hyperprolinaemia (MIM 239500)
- type II hyperprolinaemia (MIM 239510)
symptoms
Amino acids, plasma
Amino acids, urine
mental retardation
no consistent clinical signs or symptoms
onset, childhood
onset, infancy
renal failure, acute/chronic
seizures
laboratory finding
Proline500.003000.0090.00270.00-Ámol/lplasma
Proline 21.00213.00mmol/mol creatinineurine
Pyrroline-5-carboxylic dehydrogenase 100.00not detectablelymphocytes
Glycine 210.00743.00mmol/mol creatinineurine
Hydroxyproline0.000.0020.00320.00mmol/mol creatinineurineHydroxyproline
Ornithine increasedserum
EEG abnormalities -
Literature
Koike KThe gene encoding human 2-oxoglutarate dehydrogenase: structural organization and mapping to chromosome 7p13-p14Gene1592261-2661995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Stacpoole PWet al.Treatment of congenital lactic acidosis with dichloroacetateArch Dis Child770535-5411997
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Hwu WLet al.Molecular chaperones affect GTP cyclohydrolase I mutations in dopa-responsive dystoniaAnn Neurol556875-8782004
Kleijer WJet al.Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated familiesJ Inher Met Dis250399-4102002